کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3038149 | 1184449 | 2007 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
We report a unique combination of symptoms in a case of Kabuki syndrome (KS), a multiple malformation/mental retardation syndrome that has a prevalence of 1:32,000 to 1:86,000. The patient was a mentally delayed 12-year-old male with trichrome vitiligo, ectodermal defect, and hypogammaglobulinemia A and G. This unique combination of signs, described here for the first time, indicates that KS comprises multiple deficits that affect not only the brain, but ectoderm-derived structures and the immune system as well. Our report may provide important clues for understanding the pathogenesis of the KS.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 29, Issue 6, July 2007, Pages 373–376
Journal: Brain and Development - Volume 29, Issue 6, July 2007, Pages 373–376
نویسندگان
Raffaella Zannolli, Sabrina Buoni, Francesca Macucci, Renato Scarinci, Massimo Viviano, Alessandra Orsi, Giovanni de Aloe, Michele Fimiani, Luca Volterrani, Maria M. de Santi, Clelia Miracco, Michele Zappella, Joseph Hayek,